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Fetal Presentation of MYRF-Related Cardiac Urogenital Syndrome: An Emerging and Challenging Prenatal Diagnosis.

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Title: Fetal Presentation of MYRF-Related Cardiac Urogenital Syndrome: An Emerging and Challenging Prenatal Diagnosis.
Authors: Favier M; Centre de Génétique Humaine, Centre Hospitalier Universitaire de Besançon, Université de Franche-Comté, Besançon, France.; SoFFoet - Société Française de Foetopathologie, Paris, France., Brischoux-Boucher E; Centre de Génétique Humaine, Centre Hospitalier Universitaire de Besançon, Université de Franche-Comté, Besançon, France., Pyle LC; Division of Human Genetics, Department of Pediatrics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA., Mottet N; Département d'Obstétrique et de Gynécologie, Centre Hospitalier Universitaire de Besançon, Université de Bourgogne Franche-Comté, Besançon, France., Auber-Lenoir M; Département de Radiologie, Imagerie pédiatrique, prénatale et sénologie, Centre Hospitalier Universitaire de Besançon, Université de Bourgogne Franche-Comté, Besançon, France., Cattin J; Département d'Obstétrique et de Gynécologie, Centre Hospitalier Universitaire de Besançon, Université de Bourgogne Franche-Comté, Besançon, France., Dahlen E; Université de Franche-Comté, Centre Hospitalier Universitaire de Besançon, Oncobiologie Génétique Bioinformatique, FHU-TRANSLAD et Institut GIMI, Besançon, France., Cabrol C; Centre de Génétique Humaine, Centre Hospitalier Universitaire de Besançon, Université de Franche-Comté, Besançon, France., Arbez-Gindre F; Anatomie et cytologie pathologiques, Foetopathologie, Centre Hospitalier Universitaire de Besançon, Université de Bourgogne Franche-Comté, Besançon, France., Attié-Bitach T; Laboratoire de biologie médicale multisites SeqOIA, Assistance Publique Hôpitaux de Paris, Paris, France.; Institut Imagine, INSERM U1163, Université Paris Descartes, Paris, France., Boute O; Pôle de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille, Lille, France., Devisme L; Pôle de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille, Lille, France., Trost D; Génétique et Cytogénétique, Laboratoire Cerba, Saint-Ouen l'Aumône, Paris, France., Boughalem A; Génétique et Cytogénétique, Laboratoire Cerba, Saint-Ouen l'Aumône, Paris, France., Chitayat D; Mount Sinai Hospital, University of Toronto, Toronto, Canada., Prasov L; Department of Ophthalmology and Visual Sciences, W.K. Kellogg Eye Center, University of Michigan, Ann Arbor, Michigan, USA.; Department of Human Genetics, University of Michigan, Ann Arbor, Michigan, USA., Chorin O; Institute of Rare Diseases, Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Tel-Hashomer, Israel., Rein-Rothschild A; Institute of Rare Diseases, Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Tel-Hashomer, Israel.; School of Medicine, Faculty of Medical and Health Sciences, Tel-Aviv University, Tel-Aviv, Israel., Kassif E; School of Medicine, Faculty of Medical and Health Sciences, Tel-Aviv University, Tel-Aviv, Israel.; Department of Obstetrics and Gynecology, Sheba Medical Center, Tel Hashomer, Israel., Weissbach T; School of Medicine, Faculty of Medical and Health Sciences, Tel-Aviv University, Tel-Aviv, Israel.; Department of Obstetrics and Gynecology, Sheba Medical Center, Tel Hashomer, Israel., Hendon LG; Mississippi Medical Center, Jackson, Mississippi, USA., Adam MP; Division of Genetic Medicine, Seattle Children's Hospital, Seattle, Washington, USA., Quelin C; SoFFoet - Société Française de Foetopathologie, Paris, France.; Service de génétique clinique, Centre Hospitalier Universitaire de Rennes, Université de Rennes, Rennes, France., Jaillard S; Service de Cytogénétique et Biologie Cellulaire, Centre Hospitalier Universitaire de Rennes, Université de Rennes, Rennes, France., Mary L; Service de Cytogénétique et Biologie Cellulaire, Centre Hospitalier Universitaire de Rennes, Université de Rennes, Rennes, France., Aukema SM; Department of Medical Genetics, Carl von Ossietzky University, Oldenburg, Germany., Heijligers M; Department of Clinical Genetics, Maastricht University Medical Centre, Maastricht, The Netherlands., de Die-Smulders C; Department of Clinical Genetics, Maastricht University Medical Centre, Maastricht, The Netherlands., Stegmann S; Department of Clinical Genetics, Maastricht University Medical Centre, Maastricht, The Netherlands., Badalato L; Department of Pediatrics, Kingstone General Hospital, Queen's University, Kingston, Canada., Ben-Yehuda A; Medical Genetics Institute, Shaare Zedek Medical Center, Jerusalem, Israel., Beneteau C; SoFFoet - Société Française de Foetopathologie, Paris, France.; Service de Génétique Médicale, Centre Hospitalier Universitaire de Bordeaux, Université de Bordeaux, Bordeaux, France., Forey PL; Département d'Obstétrique et de Gynécologie, Centre Hospitalier Universitaire de Grenoble, Université de Grenoble, Grenoble, France., Kuentz P; Université de Franche-Comté, Centre Hospitalier Universitaire de Besançon, Oncobiologie Génétique Bioinformatique, FHU-TRANSLAD et Institut GIMI, Besançon, France.; Université de Bourgogne, INSERM UMR1231 GAD 'Génétique des Anomalies du Développement', Dijon, France., Piard J; Centre de Génétique Humaine, Centre Hospitalier Universitaire de Besançon, Université de Franche-Comté, Besançon, France.; Université de Bourgogne, INSERM UMR1231 GAD 'Génétique des Anomalies du Développement', Dijon, France.
Source: Prenatal diagnosis [Prenat Diagn] 2024 Dec; Vol. 44 (13), pp. 1647-1658. Date of Electronic Publication: 2024 Nov 14.
Publication Type: Journal Article; Research Support, N.I.H., Extramural
Journal Info: Publisher: Wiley Country of Publication: England NLM ID: 8106540 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1097-0223 (Electronic) Linking ISSN: 01973851 NLM ISO Abbreviation: Prenat Diagn Subsets: MEDLINE
Database: MEDLINE Ultimate
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  Data: Fetal Presentation of MYRF-Related Cardiac Urogenital Syndrome: An Emerging and Challenging Prenatal Diagnosis.
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  Data: <searchLink fieldCode="AU" term="%22Favier+M%22">Favier M</searchLink>; Centre de Génétique Humaine, Centre Hospitalier Universitaire de Besançon, Université de Franche-Comté, Besançon, France.; SoFFoet - Société Française de Foetopathologie, Paris, France.<br /><searchLink fieldCode="AU" term="%22Brischoux-Boucher+E%22">Brischoux-Boucher E</searchLink>; Centre de Génétique Humaine, Centre Hospitalier Universitaire de Besançon, Université de Franche-Comté, Besançon, France.<br /><searchLink fieldCode="AU" term="%22Pyle+LC%22">Pyle LC</searchLink>; Division of Human Genetics, Department of Pediatrics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.<br /><searchLink fieldCode="AU" term="%22Mottet+N%22">Mottet N</searchLink>; Département d'Obstétrique et de Gynécologie, Centre Hospitalier Universitaire de Besançon, Université de Bourgogne Franche-Comté, Besançon, France.<br /><searchLink fieldCode="AU" term="%22Auber-Lenoir+M%22">Auber-Lenoir M</searchLink>; Département de Radiologie, Imagerie pédiatrique, prénatale et sénologie, Centre Hospitalier Universitaire de Besançon, Université de Bourgogne Franche-Comté, Besançon, France.<br /><searchLink fieldCode="AU" term="%22Cattin+J%22">Cattin J</searchLink>; Département d'Obstétrique et de Gynécologie, Centre Hospitalier Universitaire de Besançon, Université de Bourgogne Franche-Comté, Besançon, France.<br /><searchLink fieldCode="AU" term="%22Dahlen+E%22">Dahlen E</searchLink>; Université de Franche-Comté, Centre Hospitalier Universitaire de Besançon, Oncobiologie Génétique Bioinformatique, FHU-TRANSLAD et Institut GIMI, Besançon, France.<br /><searchLink fieldCode="AU" term="%22Cabrol+C%22">Cabrol C</searchLink>; Centre de Génétique Humaine, Centre Hospitalier Universitaire de Besançon, Université de Franche-Comté, Besançon, France.<br /><searchLink fieldCode="AU" term="%22Arbez-Gindre+F%22">Arbez-Gindre F</searchLink>; Anatomie et cytologie pathologiques, Foetopathologie, Centre Hospitalier Universitaire de Besançon, Université de Bourgogne Franche-Comté, Besançon, France.<br /><searchLink fieldCode="AU" term="%22Attié-Bitach+T%22">Attié-Bitach T</searchLink>; Laboratoire de biologie médicale multisites SeqOIA, Assistance Publique Hôpitaux de Paris, Paris, France.; Institut Imagine, INSERM U1163, Université Paris Descartes, Paris, France.<br /><searchLink fieldCode="AU" term="%22Boute+O%22">Boute O</searchLink>; Pôle de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille, Lille, France.<br /><searchLink fieldCode="AU" term="%22Devisme+L%22">Devisme L</searchLink>; Pôle de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille, Lille, France.<br /><searchLink fieldCode="AU" term="%22Trost+D%22">Trost D</searchLink>; Génétique et Cytogénétique, Laboratoire Cerba, Saint-Ouen l'Aumône, Paris, France.<br /><searchLink fieldCode="AU" term="%22Boughalem+A%22">Boughalem A</searchLink>; Génétique et Cytogénétique, Laboratoire Cerba, Saint-Ouen l'Aumône, Paris, France.<br /><searchLink fieldCode="AU" term="%22Chitayat+D%22">Chitayat D</searchLink>; Mount Sinai Hospital, University of Toronto, Toronto, Canada.<br /><searchLink fieldCode="AU" term="%22Prasov+L%22">Prasov L</searchLink>; Department of Ophthalmology and Visual Sciences, W.K. Kellogg Eye Center, University of Michigan, Ann Arbor, Michigan, USA.; Department of Human Genetics, University of Michigan, Ann Arbor, Michigan, USA.<br /><searchLink fieldCode="AU" term="%22Chorin+O%22">Chorin O</searchLink>; Institute of Rare Diseases, Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Tel-Hashomer, Israel.<br /><searchLink fieldCode="AU" term="%22Rein-Rothschild+A%22">Rein-Rothschild A</searchLink>; Institute of Rare Diseases, Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Tel-Hashomer, Israel.; School of Medicine, Faculty of Medical and Health Sciences, Tel-Aviv University, Tel-Aviv, Israel.<br /><searchLink fieldCode="AU" term="%22Kassif+E%22">Kassif E</searchLink>; School of Medicine, Faculty of Medical and Health Sciences, Tel-Aviv University, Tel-Aviv, Israel.; Department of Obstetrics and Gynecology, Sheba Medical Center, Tel Hashomer, Israel.<br /><searchLink fieldCode="AU" term="%22Weissbach+T%22">Weissbach T</searchLink>; School of Medicine, Faculty of Medical and Health Sciences, Tel-Aviv University, Tel-Aviv, Israel.; Department of Obstetrics and Gynecology, Sheba Medical Center, Tel Hashomer, Israel.<br /><searchLink fieldCode="AU" term="%22Hendon+LG%22">Hendon LG</searchLink>; Mississippi Medical Center, Jackson, Mississippi, USA.<br /><searchLink fieldCode="AU" term="%22Adam+MP%22">Adam MP</searchLink>; Division of Genetic Medicine, Seattle Children's Hospital, Seattle, Washington, USA.<br /><searchLink fieldCode="AU" term="%22Quelin+C%22">Quelin C</searchLink>; SoFFoet - Société Française de Foetopathologie, Paris, France.; Service de génétique clinique, Centre Hospitalier Universitaire de Rennes, Université de Rennes, Rennes, France.<br /><searchLink fieldCode="AU" term="%22Jaillard+S%22">Jaillard S</searchLink>; Service de Cytogénétique et Biologie Cellulaire, Centre Hospitalier Universitaire de Rennes, Université de Rennes, Rennes, France.<br /><searchLink fieldCode="AU" term="%22Mary+L%22">Mary L</searchLink>; Service de Cytogénétique et Biologie Cellulaire, Centre Hospitalier Universitaire de Rennes, Université de Rennes, Rennes, France.<br /><searchLink fieldCode="AU" term="%22Aukema+SM%22">Aukema SM</searchLink>; Department of Medical Genetics, Carl von Ossietzky University, Oldenburg, Germany.<br /><searchLink fieldCode="AU" term="%22Heijligers+M%22">Heijligers M</searchLink>; Department of Clinical Genetics, Maastricht University Medical Centre, Maastricht, The Netherlands.<br /><searchLink fieldCode="AU" term="%22de+Die-Smulders+C%22">de Die-Smulders C</searchLink>; Department of Clinical Genetics, Maastricht University Medical Centre, Maastricht, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Stegmann+S%22">Stegmann S</searchLink>; Department of Clinical Genetics, Maastricht University Medical Centre, Maastricht, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Badalato+L%22">Badalato L</searchLink>; Department of Pediatrics, Kingstone General Hospital, Queen's University, Kingston, Canada.<br /><searchLink fieldCode="AU" term="%22Ben-Yehuda+A%22">Ben-Yehuda A</searchLink>; Medical Genetics Institute, Shaare Zedek Medical Center, Jerusalem, Israel.<br /><searchLink fieldCode="AU" term="%22Beneteau+C%22">Beneteau C</searchLink>; SoFFoet - Société Française de Foetopathologie, Paris, France.; Service de Génétique Médicale, Centre Hospitalier Universitaire de Bordeaux, Université de Bordeaux, Bordeaux, France.<br /><searchLink fieldCode="AU" term="%22Forey+PL%22">Forey PL</searchLink>; Département d'Obstétrique et de Gynécologie, Centre Hospitalier Universitaire de Grenoble, Université de Grenoble, Grenoble, France.<br /><searchLink fieldCode="AU" term="%22Kuentz+P%22">Kuentz P</searchLink>; Université de Franche-Comté, Centre Hospitalier Universitaire de Besançon, Oncobiologie Génétique Bioinformatique, FHU-TRANSLAD et Institut GIMI, Besançon, France.; Université de Bourgogne, INSERM UMR1231 GAD 'Génétique des Anomalies du Développement', Dijon, France.<br /><searchLink fieldCode="AU" term="%22Piard+J%22">Piard J</searchLink>; Centre de Génétique Humaine, Centre Hospitalier Universitaire de Besançon, Université de Franche-Comté, Besançon, France.; Université de Bourgogne, INSERM UMR1231 GAD 'Génétique des Anomalies du Développement', Dijon, France.
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